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Test Code CALR CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Varies

Useful For

Rapid and sensitive detection of insertion and deletion-type mutations in exon 9 of CALR

 

Aiding in distinguishing between reactive thrombocytosis and leukocytosis versus a myeloproliferative neoplasm (MPN), especially essential thrombocythemia (ET) and primary myelofibrosis (PMF), and is highly informative in cases in which JAK2 and MPL testing are negative

 

Especially helpful to the pathologist in those bone marrow cases with ambiguous etiology of thrombocytosis, equivocal bone marrow morphologic findings of MPN, and unexplained reticulin fibrosis

 

Aiding in the prognostication of PMF and thrombosis risk assessment in ET

Reporting Name

MPN, CALR Gene Mutation, Exon 9

Specimen Type

Varies


Ordering Guidance


 



Shipping Instructions


Specimen must arrive within 7 days of collection.



Necessary Information


Specimen source is required



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Label specimen as blood.

3. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerate

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

 

Specimen Type: Bone marrow

Container/Tube: Lavender top (EDTA) or yellow top (ACD

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Label specimen as bone marrow.

3. Send bone marrow specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerate

 

Specimen Type: Extracted DNA from blood or bone marrow

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions:

1. Label specimen as extracted DNA from blood or bone marrow

2. Include indication of volume and concentration of the DNA.

Specimen Stability Information: Frozen (preferred)/Refrigerate/Ambient


Specimen Minimum Volume

Whole blood/bone marrow: 1 mL; Extracted DNA: 50 mcl at 20 ng/mcL concentration

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies 7 days

Reject Due To

Gross hemolysis Reject
Paraffin-embedded bone marrow aspirate clot
Bone marrow biopsies, slides, or paraffin shavings
Moderately to severely clotted		 Reject
 

Reference Values

An interpretive report will be provided

Method Description

Polymerase chain reaction (PCR) amplification of CALR exon 9 is performed on DNA isolated from the patient sample. The PCR product is then run on an ABI 3130xl Genetic Analyzer for fragment analysis to detect insertions and deletions. An unmutated CALR will show an amplicon at 266 base pairs (bp), a mutated CALR with insertion will show an amplicon greater than 266 bp, and a mutated CALR with deletion will show an amplicon smaller than 266 bp. This assay has an analytical sensitivity of approximately 6% (ie, 6 mutation-containing cells in 100 total cells) in most mutation types, except for the rare type of 1-bp deletion, which has a sensitivity of approximately 20%. This is a laboratory developed test.(Unpublished Mayo method)

Day(s) Performed

Monday through Friday

Report Available

3 to 5 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81219-CALR (calreticulin) (eg, myeloproliferative disorders), gene analysis, common variants in exon 9

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CALR MPN, CALR Gene Mutation, Exon 9 77174-1

 

Result ID Test Result Name Result LOINC Value
MP020 Specimen 31208-2
36301 Final Diagnosis 22637-3

Method Name

Polymerase Chain Reaction (PCR) and Fragment Analysis

Forms

1. Hematopathology Patient Information (T676)

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Secondary ID

62912